"PreventionGenetics, part of Exact Sciences"[submitter] AND "SORL1"[ge - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1532873	NM_003105.6(SORL1):c.136C>G (p.Arg46Gly)	SORL1, SORL1-AS1 (R46G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3049956	NM_003105.6(SORL1):c.759-9_759-8dup	SORL1	Duplication (intron variant)	SORL1-related disorder	GLikely benign
Select item 1209921	NM_003105.6(SORL1):c.807T>C (p.His269=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 717155	NM_003105.6(SORL1):c.1112A>C (p.Asn371Thr)	SORL1 (N371T)	Single nucleotide variant (missense variant)	SORL1-related disorder +1 more	GBenign/Likely benign
Select item 1624814	NM_003105.6(SORL1):c.1749G>A (p.Val583=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1658316	NM_003105.6(SORL1):c.2200G>A (p.Asp734Asn)	SORL1 (D734N)	Single nucleotide variant (missense variant)	SORL1-related disorder +1 more	GBenign
Select item 3048502	NM_003105.6(SORL1):c.2337C>T (p.Thr779=)	LOC114803469, SORL1	Single nucleotide variant (synonymous variant)	SORL1-related disorder	GLikely benign
Select item 3058421	NM_003105.6(SORL1):c.2440-10C>T	SORL1	Single nucleotide variant (intron variant)	SORL1-related disorder	GLikely benign
Select item 753328	NM_003105.6(SORL1):c.2571+9A>G	SORL1	Single nucleotide variant (intron variant)	SORL1-related disorder +1 more	GBenign/Likely benign
Select item 3053404	NM_003105.6(SORL1):c.2943C>T (p.Leu981=)	SORL1	Single nucleotide variant (synonymous variant)	SORL1-related disorder	GLikely benign
Select item 1167437	NM_003105.6(SORL1):c.3346A>G (p.Ile1116Val)	SORL1 (I1116V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1588511	NM_003105.6(SORL1):c.3501C>G (p.Ser1167=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1210021	NM_003105.6(SORL1):c.3561T>G (p.Ser1187=)	SORL1	Single nucleotide variant (synonymous variant)	SORL1-related disorder +1 more	GBenign
Select item 1209963	NM_003105.6(SORL1):c.3738C>T (p.Asn1246=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1210037	NM_003105.6(SORL1):c.3814+10T>G	SORL1	Single nucleotide variant (intron variant)	SORL1-related disorder +1 more	GBenign
Select item 1600983	NM_003105.6(SORL1):c.4176C>T (p.Asn1392=)	SORL1	Single nucleotide variant (synonymous variant)	SORL1-related disorder +1 more	GBenign
Select item 745686	NM_003105.6(SORL1):c.4213+5G>C	SORL1	Single nucleotide variant (intron variant)	SORL1-related disorder +1 more	GBenign/Likely benign
Select item 716673	NM_003105.6(SORL1):c.4347C>T (p.Asp1449=)	SORL1	Single nucleotide variant (synonymous variant)	SORL1-related disorder +1 more	GLikely benign
Select item 1905479	NM_003105.6(SORL1):c.4369+8C>G	SORL1	Single nucleotide variant (intron variant)	SORL1-related disorder +1 more	GLikely benign
Select item 761546	NM_003105.6(SORL1):c.4447A>G (p.Thr1483Ala)	LOC126861368, SORL1 (T1483A)	Single nucleotide variant (missense variant)	SORL1-related disorder +1 more	GBenign/Likely benign
Select item 731189	NM_003105.6(SORL1):c.4606G>A (p.Gly1536Ser)	SORL1 (G1536S)	Single nucleotide variant (missense variant)	SORL1-related disorder +1 more	GBenign/Likely benign
Select item 1209934	NM_003105.6(SORL1):c.4752T>A (p.Ala1584=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 776671	NM_003105.6(SORL1):c.4975C>T (p.Leu1659=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2892439	NM_003105.6(SORL1):c.5589C>T (p.Thr1863=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 778073	NM_003105.6(SORL1):c.6021A>G (p.Gln2007=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 777656	NM_003105.6(SORL1):c.6282G>A (p.Thr2094=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 769377	NM_003105.6(SORL1):c.6318G>A (p.Gln2106=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2137279	NM_003105.6(SORL1):c.6441A>G (p.Ile2147Met)	SORL1 (I2147M)	Single nucleotide variant (missense variant)	SORL1-related disorder +1 more	GUncertain significance
Select item 2917276	NM_003105.6(SORL1):c.6474G>A (p.Leu2158=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 29